SNP Links for Protein (Select 93588500) - SNP

Select item 14906568091.

rs1490656809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:11750088 (GRCh38)
1:11810145 (GRCh37)
Canonical SPDI:: NC_000001.11:11750087:T:A
Gene:: AGTRAP (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11750088T>A, NC_000001.10:g.11810145T>A, NM_020350.5:c.376T>A, NM_020350.4:c.376T>A, XM_011541800.4:c.412T>A, XM_011541800.3:c.412T>A, XM_011541800.2:c.412T>A, XM_011541800.1:c.412T>A, XM_011541799.4:c.391T>A, XM_011541799.3:c.391T>A, XM_011541799.2:c.391T>A, XM_011541799.1:c.794T>A, XM_011541802.3:c.488T>A, XM_011541802.2:c.488T>A, XM_011541802.1:c.488T>A, NM_001040197.2:c.*29T>A, NM_001040197.1:c.*29T>A, NM_001040196.2:c.452T>A, NM_001040196.1:c.452T>A, NM_001040194.2:c.355T>A, NM_001040194.1:c.355T>A, NM_001040195.2:c.320T>A, NM_001040195.1:c.320T>A, NP_065083.3:p.Ser126Thr, XP_011540102.1:p.Ser138Thr, XP_011540101.2:p.Ser131Thr, XP_011540104.1:p.Val163Asp, NP_001035286.1:p.Val151Asp, NP_001035284.1:p.Ser119Thr, NP_001035285.1:p.Val107Asp

Select item 14775445392.

rs1477544539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11747469 (GRCh38)
1:11807526 (GRCh37)
Canonical SPDI:: NC_000001.11:11747468:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000102/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11747469C>T, NC_000001.10:g.11807526C>T, NM_020350.5:c.92C>T, NM_020350.4:c.92C>T, XM_011541800.4:c.128C>T, XM_011541800.3:c.128C>T, XM_011541800.2:c.128C>T, XM_011541800.1:c.128C>T, XM_011541799.4:c.128C>T, XM_011541799.3:c.128C>T, XM_011541799.2:c.128C>T, XM_011541799.1:c.531C>T, XM_011541802.3:c.225C>T, XM_011541802.2:c.225C>T, XM_011541802.1:c.225C>T, NM_001040197.2:c.189C>T, NM_001040197.1:c.189C>T, NM_001040196.2:c.189C>T, NM_001040196.1:c.189C>T, NM_001040194.2:c.92C>T, NM_001040194.1:c.92C>T, NM_001040195.2:c.57C>T, NM_001040195.1:c.57C>T, NP_065083.3:p.Ala31Val, XP_011540102.1:p.Ala43Val, XP_011540101.2:p.Ala43Val, NP_001035284.1:p.Ala31Val

Select item 14765378933.

rs1476537893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11736217 (GRCh38)
1:11796274 (GRCh37)
Canonical SPDI:: NC_000001.11:11736216:G:A
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.11736217G>A, NC_000001.10:g.11796274G>A, NM_020350.5:c.9G>A, NM_020350.4:c.9G>A, XM_011541800.4:c.9G>A, XM_011541800.3:c.9G>A, XM_011541800.2:c.9G>A, XM_011541800.1:c.9G>A, XM_011541799.4:c.9G>A, XM_011541799.3:c.9G>A, XM_011541799.2:c.9G>A, XM_011541799.1:c.412G>A, XM_011541802.3:c.9G>A, XM_011541802.2:c.9G>A, XM_011541802.1:c.9G>A, NM_001040197.2:c.9G>A, NM_001040197.1:c.9G>A, NM_001040196.2:c.9G>A, NM_001040196.1:c.9G>A, NM_001040194.2:c.9G>A, NM_001040194.1:c.9G>A, NM_001040195.2:c.9G>A, NM_001040195.1:c.9G>A

Select item 14757457274.

rs1475745727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11748420 (GRCh38)
1:11808477 (GRCh37)
Canonical SPDI:: NC_000001.11:11748419:G:A
Gene:: AGTRAP (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11748420G>A, NC_000001.10:g.11808477G>A, NM_020350.5:c.174G>A, NM_020350.4:c.174G>A, XM_011541800.4:c.210G>A, XM_011541800.3:c.210G>A, XM_011541800.2:c.210G>A, XM_011541800.1:c.210G>A, XM_011541799.4:c.210G>A, XM_011541799.3:c.210G>A, XM_011541799.2:c.210G>A, XM_011541799.1:c.613G>A, XM_011541802.3:c.307G>A, XM_011541802.2:c.307G>A, XM_011541802.1:c.307G>A, NM_001040197.2:c.271G>A, NM_001040197.1:c.271G>A, NM_001040196.2:c.271G>A, NM_001040196.1:c.271G>A, NM_001040194.2:c.174G>A, NM_001040194.1:c.174G>A, NM_001040195.2:c.139G>A, NM_001040195.1:c.139G>A, XP_011540104.1:p.Gly103Arg, NP_001035287.1:p.Gly91Arg, NP_001035286.1:p.Gly91Arg, NP_001035285.1:p.Gly47Arg

Select item 14745041235.

rs1474504123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11747486 (GRCh38)
1:11807543 (GRCh37)
Canonical SPDI:: NC_000001.11:11747485:A:G
Gene:: AGTRAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11747486A>G, NC_000001.10:g.11807543A>G, NM_020350.5:c.109A>G, NM_020350.4:c.109A>G, XM_011541800.4:c.145A>G, XM_011541800.3:c.145A>G, XM_011541800.2:c.145A>G, XM_011541800.1:c.145A>G, XM_011541799.4:c.145A>G, XM_011541799.3:c.145A>G, XM_011541799.2:c.145A>G, XM_011541799.1:c.548A>G, XM_011541802.3:c.242A>G, XM_011541802.2:c.242A>G, XM_011541802.1:c.242A>G, NM_001040197.2:c.206A>G, NM_001040197.1:c.206A>G, NM_001040196.2:c.206A>G, NM_001040196.1:c.206A>G, NM_001040194.2:c.109A>G, NM_001040194.1:c.109A>G, NM_001040195.2:c.74A>G, NM_001040195.1:c.74A>G, NP_065083.3:p.Ile37Val, XP_011540102.1:p.Ile49Val, XP_011540101.2:p.Ile49Val, XP_011540104.1:p.His81Arg, NP_001035287.1:p.His69Arg, NP_001035286.1:p.His69Arg, NP_001035284.1:p.Ile37Val, NP_001035285.1:p.His25Arg

Select item 14691164256.

rs1469116425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11736230 (GRCh38)
1:11796287 (GRCh37)
Canonical SPDI:: NC_000001.11:11736229:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.11736230C>T, NC_000001.10:g.11796287C>T, NM_020350.5:c.22C>T, NM_020350.4:c.22C>T, XM_011541800.4:c.22C>T, XM_011541800.3:c.22C>T, XM_011541800.2:c.22C>T, XM_011541800.1:c.22C>T, XM_011541799.4:c.22C>T, XM_011541799.3:c.22C>T, XM_011541799.2:c.22C>T, XM_011541799.1:c.425C>T, XM_011541802.3:c.22C>T, XM_011541802.2:c.22C>T, XM_011541802.1:c.22C>T, NM_001040197.2:c.22C>T, NM_001040197.1:c.22C>T, NM_001040196.2:c.22C>T, NM_001040196.1:c.22C>T, NM_001040194.2:c.22C>T, NM_001040194.1:c.22C>T, NM_001040195.2:c.22C>T, NM_001040195.1:c.22C>T

Select item 14632489627.

rs1463248962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11748433 (GRCh38)
1:11808490 (GRCh37)
Canonical SPDI:: NC_000001.11:11748432:G:A
Gene:: AGTRAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11748433G>A, NC_000001.10:g.11808490G>A, NM_020350.5:c.187G>A, NM_020350.4:c.187G>A, XM_011541800.4:c.223G>A, XM_011541800.3:c.223G>A, XM_011541800.2:c.223G>A, XM_011541800.1:c.223G>A, XM_011541799.4:c.223G>A, XM_011541799.3:c.223G>A, XM_011541799.2:c.223G>A, XM_011541799.1:c.626G>A, XM_011541802.3:c.320G>A, XM_011541802.2:c.320G>A, XM_011541802.1:c.320G>A, NM_001040197.2:c.284G>A, NM_001040197.1:c.284G>A, NM_001040196.2:c.284G>A, NM_001040196.1:c.284G>A, NM_001040194.2:c.187G>A, NM_001040194.1:c.187G>A, NM_001040195.2:c.152G>A, NM_001040195.1:c.152G>A, NP_065083.3:p.Ala63Thr, XP_011540102.1:p.Ala75Thr, XP_011540101.2:p.Ala75Thr, XP_011540104.1:p.Gly107Asp, NP_001035287.1:p.Gly95Asp, NP_001035286.1:p.Gly95Asp, NP_001035284.1:p.Ala63Thr, NP_001035285.1:p.Gly51Asp

Select item 14589098908.

rs1458909890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11745809 (GRCh38)
1:11805866 (GRCh37)
Canonical SPDI:: NC_000001.11:11745808:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11745809C>T, NC_000001.10:g.11805866C>T, NM_020350.5:c.34C>T, NM_020350.4:c.34C>T, XM_011541800.4:c.70C>T, XM_011541800.3:c.70C>T, XM_011541800.2:c.70C>T, XM_011541800.1:c.70C>T, XM_011541799.4:c.70C>T, XM_011541799.3:c.70C>T, XM_011541799.2:c.70C>T, XM_011541799.1:c.473C>T, XM_011541802.3:c.70C>T, XM_011541802.2:c.70C>T, XM_011541802.1:c.70C>T, NM_001040197.2:c.34C>T, NM_001040197.1:c.34C>T, NM_001040196.2:c.34C>T, NM_001040196.1:c.34C>T, NM_001040194.2:c.34C>T, NM_001040194.1:c.34C>T, NP_065083.3:p.Leu12Phe, XP_011540102.1:p.Leu24Phe, XP_011540101.2:p.Leu24Phe, XP_011540104.1:p.Leu24Phe, NP_001035287.1:p.Leu12Phe, NP_001035286.1:p.Leu12Phe, NP_001035284.1:p.Leu12Phe

Select item 14557799379.

rs1455779937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:11747533 (GRCh38)
1:11807590 (GRCh37)
Canonical SPDI:: NC_000001.11:11747532:C:G,NC_000001.11:11747532:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.11747533C>G, NC_000001.11:g.11747533C>T, NC_000001.10:g.11807590C>G, NC_000001.10:g.11807590C>T, NM_020350.5:c.156C>G, NM_020350.5:c.156C>T, NM_020350.4:c.156C>G, NM_020350.4:c.156C>T, XM_011541800.4:c.192C>G, XM_011541800.4:c.192C>T, XM_011541800.3:c.192C>G, XM_011541800.3:c.192C>T, XM_011541800.2:c.192C>G, XM_011541800.2:c.192C>T, XM_011541800.1:c.192C>G, XM_011541800.1:c.192C>T, XM_011541799.4:c.192C>G, XM_011541799.4:c.192C>T, XM_011541799.3:c.192C>G, XM_011541799.3:c.192C>T, XM_011541799.2:c.192C>G, XM_011541799.2:c.192C>T, XM_011541799.1:c.595C>G, XM_011541799.1:c.595C>T, XM_011541802.3:c.289C>G, XM_011541802.3:c.289C>T, XM_011541802.2:c.289C>G, XM_011541802.2:c.289C>T, XM_011541802.1:c.289C>G, XM_011541802.1:c.289C>T, NM_001040197.2:c.253C>G, NM_001040197.2:c.253C>T, NM_001040197.1:c.253C>G, NM_001040197.1:c.253C>T, NM_001040196.2:c.253C>G, NM_001040196.2:c.253C>T, NM_001040196.1:c.253C>G, NM_001040196.1:c.253C>T, NM_001040194.2:c.156C>G, NM_001040194.2:c.156C>T, NM_001040194.1:c.156C>G, NM_001040194.1:c.156C>T, NM_001040195.2:c.121C>G, NM_001040195.2:c.121C>T, NM_001040195.1:c.121C>G, NM_001040195.1:c.121C>T, NP_065083.3:p.Asp52Glu, XP_011540102.1:p.Asp64Glu, XP_011540101.2:p.Asp64Glu, XP_011540104.1:p.Arg97Gly, XP_011540104.1:p.Arg97Cys, NP_001035287.1:p.Arg85Gly, NP_001035287.1:p.Arg85Cys, NP_001035286.1:p.Arg85Gly, NP_001035286.1:p.Arg85Cys, NP_001035284.1:p.Asp52Glu, NP_001035285.1:p.Arg41Gly, NP_001035285.1:p.Arg41Cys

Select item 143912144410.

rs1439121444 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:11745813 (GRCh38)
1:11805870 (GRCh37)
Canonical SPDI:: NC_000001.11:11745812:T:
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11745813del, NC_000001.10:g.11805870del, NM_020350.5:c.38del, NM_020350.4:c.38del, XM_011541800.4:c.74del, XM_011541800.3:c.74del, XM_011541800.2:c.74del, XM_011541800.1:c.74del, XM_011541799.4:c.74del, XM_011541799.3:c.74del, XM_011541799.2:c.74del, XM_011541799.1:c.477del, XM_011541802.3:c.74del, XM_011541802.2:c.74del, XM_011541802.1:c.74del, NM_001040197.2:c.38del, NM_001040197.1:c.38del, NM_001040196.2:c.38del, NM_001040196.1:c.38del, NM_001040194.2:c.38del, NM_001040194.1:c.38del, NP_065083.3:p.Leu13fs, XP_011540102.1:p.Leu25fs, XP_011540101.2:p.Leu25fs, XP_011540104.1:p.Leu25fs, NP_001035287.1:p.Leu13fs, NP_001035286.1:p.Leu13fs, NP_001035284.1:p.Leu13fs

Select item 142824140111.

rs1428241401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:11748460 (GRCh38)
1:11808517 (GRCh37)
Canonical SPDI:: NC_000001.11:11748459:A:T
Gene:: AGTRAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11748460A>T, NC_000001.10:g.11808517A>T, NM_020350.5:c.214A>T, NM_020350.4:c.214A>T, XM_011541800.4:c.250A>T, XM_011541800.3:c.250A>T, XM_011541800.2:c.250A>T, XM_011541800.1:c.250A>T, XM_011541799.4:c.250A>T, XM_011541799.3:c.250A>T, XM_011541799.2:c.250A>T, XM_011541799.1:c.653A>T, XM_011541802.3:c.347A>T, XM_011541802.2:c.347A>T, XM_011541802.1:c.347A>T, NM_001040197.2:c.311A>T, NM_001040197.1:c.311A>T, NM_001040196.2:c.311A>T, NM_001040196.1:c.311A>T, NM_001040194.2:c.214A>T, NM_001040194.1:c.214A>T, NM_001040195.2:c.179A>T, NM_001040195.1:c.179A>T, NP_065083.3:p.Ile72Phe, XP_011540102.1:p.Ile84Phe, XP_011540101.2:p.Ile84Phe, XP_011540104.1:p.His116Leu, NP_001035287.1:p.His104Leu, NP_001035286.1:p.His104Leu, NP_001035284.1:p.Ile72Phe, NP_001035285.1:p.His60Leu

Select item 142100578612.

rs1421005786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11747463 (GRCh38)
1:11807520 (GRCh37)
Canonical SPDI:: NC_000001.11:11747462:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11747463C>T, NC_000001.10:g.11807520C>T, NM_020350.5:c.86C>T, NM_020350.4:c.86C>T, XM_011541800.4:c.122C>T, XM_011541800.3:c.122C>T, XM_011541800.2:c.122C>T, XM_011541800.1:c.122C>T, XM_011541799.4:c.122C>T, XM_011541799.3:c.122C>T, XM_011541799.2:c.122C>T, XM_011541799.1:c.525C>T, XM_011541802.3:c.219C>T, XM_011541802.2:c.219C>T, XM_011541802.1:c.219C>T, NM_001040197.2:c.183C>T, NM_001040197.1:c.183C>T, NM_001040196.2:c.183C>T, NM_001040196.1:c.183C>T, NM_001040194.2:c.86C>T, NM_001040194.1:c.86C>T, NM_001040195.2:c.51C>T, NM_001040195.1:c.51C>T, NP_065083.3:p.Ser29Phe, XP_011540102.1:p.Ser41Phe, XP_011540101.2:p.Ser41Phe, NP_001035284.1:p.Ser29Phe

Select item 140426183313.

rs1404261833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11736218 (GRCh38)
1:11796275 (GRCh37)
Canonical SPDI:: NC_000001.11:11736217:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11736218C>T, NC_000001.10:g.11796275C>T, NM_020350.5:c.10C>T, NM_020350.4:c.10C>T, XM_011541800.4:c.10C>T, XM_011541800.3:c.10C>T, XM_011541800.2:c.10C>T, XM_011541800.1:c.10C>T, XM_011541799.4:c.10C>T, XM_011541799.3:c.10C>T, XM_011541799.2:c.10C>T, XM_011541799.1:c.413C>T, XM_011541802.3:c.10C>T, XM_011541802.2:c.10C>T, XM_011541802.1:c.10C>T, NM_001040197.2:c.10C>T, NM_001040197.1:c.10C>T, NM_001040196.2:c.10C>T, NM_001040196.1:c.10C>T, NM_001040194.2:c.10C>T, NM_001040194.1:c.10C>T, NM_001040195.2:c.10C>T, NM_001040195.1:c.10C>T, NP_065083.3:p.Pro4Ser, XP_011540102.1:p.Pro4Ser, XP_011540101.2:p.Pro4Ser, XP_011540104.1:p.Pro4Ser, NP_001035287.1:p.Pro4Ser, NP_001035286.1:p.Pro4Ser, NP_001035284.1:p.Pro4Ser, NP_001035285.1:p.Pro4Ser

Select item 140091327014.

rs1400913270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11748439 (GRCh38)
1:11808496 (GRCh37)
Canonical SPDI:: NC_000001.11:11748438:A:G
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.11748439A>G, NC_000001.10:g.11808496A>G, NM_020350.5:c.193A>G, NM_020350.4:c.193A>G, XM_011541800.4:c.229A>G, XM_011541800.3:c.229A>G, XM_011541800.2:c.229A>G, XM_011541800.1:c.229A>G, XM_011541799.4:c.229A>G, XM_011541799.3:c.229A>G, XM_011541799.2:c.229A>G, XM_011541799.1:c.632A>G, XM_011541802.3:c.326A>G, XM_011541802.2:c.326A>G, XM_011541802.1:c.326A>G, NM_001040197.2:c.290A>G, NM_001040197.1:c.290A>G, NM_001040196.2:c.290A>G, NM_001040196.1:c.290A>G, NM_001040194.2:c.193A>G, NM_001040194.1:c.193A>G, NM_001040195.2:c.158A>G, NM_001040195.1:c.158A>G, NP_065083.3:p.Ile65Val, XP_011540102.1:p.Ile77Val, XP_011540101.2:p.Ile77Val, XP_011540104.1:p.His109Arg, NP_001035287.1:p.His97Arg, NP_001035286.1:p.His97Arg, NP_001035284.1:p.Ile65Val, NP_001035285.1:p.His53Arg

Select item 139938091715.

rs1399380917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11748499 (GRCh38)
1:11808556 (GRCh37)
Canonical SPDI:: NC_000001.11:11748498:G:A
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11748499G>A, NC_000001.10:g.11808556G>A, NM_020350.5:c.253G>A, NM_020350.4:c.253G>A, XM_011541800.4:c.289G>A, XM_011541800.3:c.289G>A, XM_011541800.2:c.289G>A, XM_011541800.1:c.289G>A, XM_011541799.4:c.289G>A, XM_011541799.3:c.289G>A, XM_011541799.2:c.289G>A, XM_011541799.1:c.692G>A, XM_011541802.3:c.386G>A, XM_011541802.2:c.386G>A, XM_011541802.1:c.386G>A, NM_001040197.2:c.350G>A, NM_001040197.1:c.350G>A, NM_001040196.2:c.350G>A, NM_001040196.1:c.350G>A, NM_001040194.2:c.253G>A, NM_001040194.1:c.253G>A, NM_001040195.2:c.218G>A, NM_001040195.1:c.218G>A, NP_065083.3:p.Gly85Ser, XP_011540102.1:p.Gly97Ser, XP_011540101.2:p.Gly97Ser, XP_011540104.1:p.Gly129Glu, NP_001035287.1:p.Gly117Glu, NP_001035286.1:p.Gly117Glu, NP_001035284.1:p.Gly85Ser, NP_001035285.1:p.Gly73Glu

Select item 139875369016.

rs1398753690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:11747496 (GRCh38)
1:11807553 (GRCh37)
Canonical SPDI:: NC_000001.11:11747495:T:C
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
HGVS:: NC_000001.11:g.11747496T>C, NC_000001.10:g.11807553T>C, NM_020350.5:c.119T>C, NM_020350.4:c.119T>C, XM_011541800.4:c.155T>C, XM_011541800.3:c.155T>C, XM_011541800.2:c.155T>C, XM_011541800.1:c.155T>C, XM_011541799.4:c.155T>C, XM_011541799.3:c.155T>C, XM_011541799.2:c.155T>C, XM_011541799.1:c.558T>C, XM_011541802.3:c.252T>C, XM_011541802.2:c.252T>C, XM_011541802.1:c.252T>C, NM_001040197.2:c.216T>C, NM_001040197.1:c.216T>C, NM_001040196.2:c.216T>C, NM_001040196.1:c.216T>C, NM_001040194.2:c.119T>C, NM_001040194.1:c.119T>C, NM_001040195.2:c.84T>C, NM_001040195.1:c.84T>C, NP_065083.3:p.Leu40Ser, XP_011540102.1:p.Leu52Ser, XP_011540101.2:p.Leu52Ser, NP_001035284.1:p.Leu40Ser

Select item 139411536617.

rs1394115366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:11750128 (GRCh38)
1:11810185 (GRCh37)
Canonical SPDI:: NC_000001.11:11750127:C:G
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11750128C>G, NC_000001.10:g.11810185C>G, NM_020350.5:c.416C>G, NM_020350.4:c.416C>G, XM_011541800.4:c.452C>G, XM_011541800.3:c.452C>G, XM_011541800.2:c.452C>G, XM_011541800.1:c.452C>G, XM_011541799.4:c.431C>G, XM_011541799.3:c.431C>G, XM_011541799.2:c.431C>G, XM_011541799.1:c.*24C>G, XM_011541802.3:c.*24C>G, XM_011541802.2:c.*24C>G, XM_011541802.1:c.*24C>G, NM_001040197.2:c.*69C>G, NM_001040197.1:c.*69C>G, NM_001040196.2:c.*24C>G, NM_001040196.1:c.*24C>G, NM_001040194.2:c.395C>G, NM_001040194.1:c.395C>G, NM_001040195.2:c.*24C>G, NM_001040195.1:c.*24C>G, NP_065083.3:p.Ala139Gly, XP_011540102.1:p.Ala151Gly, XP_011540101.2:p.Ala144Gly, NP_001035284.1:p.Ala132Gly

Select item 139337156018.

rs1393371560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11750173 (GRCh38)
1:11810230 (GRCh37)
Canonical SPDI:: NC_000001.11:11750172:A:G
Gene:: AGTRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.11750173A>G, NC_000001.10:g.11810230A>G, NM_020350.5:c.461A>G, NM_020350.4:c.461A>G, XM_011541800.4:c.497A>G, XM_011541800.3:c.497A>G, XM_011541800.2:c.497A>G, XM_011541800.1:c.497A>G, XM_011541799.4:c.476A>G, XM_011541799.3:c.476A>G, XM_011541799.2:c.476A>G, XM_011541799.1:c.*69A>G, XM_011541802.3:c.*69A>G, XM_011541802.2:c.*69A>G, XM_011541802.1:c.*69A>G, NM_001040197.2:c.*114A>G, NM_001040197.1:c.*114A>G, NM_001040196.2:c.*69A>G, NM_001040196.1:c.*69A>G, NM_001040194.2:c.440A>G, NM_001040194.1:c.440A>G, NM_001040195.2:c.*69A>G, NM_001040195.1:c.*69A>G, NP_065083.3:p.Gln154Arg, XP_011540102.1:p.Gln166Arg, XP_011540101.2:p.Gln159Arg, NP_001035284.1:p.Gln147Arg

Select item 137915311119.

rs1379153111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11747530 (GRCh38)
1:11807587 (GRCh37)
Canonical SPDI:: NC_000001.11:11747529:C:T
Gene:: AGTRAP (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11747530C>T, NC_000001.10:g.11807587C>T, NM_020350.5:c.153C>T, NM_020350.4:c.153C>T, XM_011541800.4:c.189C>T, XM_011541800.3:c.189C>T, XM_011541800.2:c.189C>T, XM_011541800.1:c.189C>T, XM_011541799.4:c.189C>T, XM_011541799.3:c.189C>T, XM_011541799.2:c.189C>T, XM_011541799.1:c.592C>T, XM_011541802.3:c.286C>T, XM_011541802.2:c.286C>T, XM_011541802.1:c.286C>T, NM_001040197.2:c.250C>T, NM_001040197.1:c.250C>T, NM_001040196.2:c.250C>T, NM_001040196.1:c.250C>T, NM_001040194.2:c.153C>T, NM_001040194.1:c.153C>T, NM_001040195.2:c.118C>T, NM_001040195.1:c.118C>T, XP_011540104.1:p.Arg96Ter, NP_001035287.1:p.Arg84Ter, NP_001035286.1:p.Arg84Ter, NP_001035285.1:p.Arg40Ter

Select item 137548937920.

rs1375489379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11748498 (GRCh38)
1:11808555 (GRCh37)
Canonical SPDI:: NC_000001.11:11748497:G:A
Gene:: AGTRAP (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.11748498G>A, NC_000001.10:g.11808555G>A, NM_020350.5:c.252G>A, NM_020350.4:c.252G>A, XM_011541800.4:c.288G>A, XM_011541800.3:c.288G>A, XM_011541800.2:c.288G>A, XM_011541800.1:c.288G>A, XM_011541799.4:c.288G>A, XM_011541799.3:c.288G>A, XM_011541799.2:c.288G>A, XM_011541799.1:c.691G>A, XM_011541802.3:c.385G>A, XM_011541802.2:c.385G>A, XM_011541802.1:c.385G>A, NM_001040197.2:c.349G>A, NM_001040197.1:c.349G>A, NM_001040196.2:c.349G>A, NM_001040196.1:c.349G>A, NM_001040194.2:c.252G>A, NM_001040194.1:c.252G>A, NM_001040195.2:c.217G>A, NM_001040195.1:c.217G>A, XP_011540104.1:p.Gly129Arg, NP_001035287.1:p.Gly117Arg, NP_001035286.1:p.Gly117Arg, NP_001035285.1:p.Gly73Arg

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 171

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 171

Page of 9

Page of 9

Display Settings:

Supplemental Content

Find related data

Recent activity